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Hirschsprung disease: associated syndromes and genetics
  1. Jeanne Amiel (amiel{at}necker.fr)
  1. Universite Paris 5-Descartes, France
    1. Eileen Sproat-Emison
    1. Johns Hopkins University School Of Medicine, United States
      1. Merce Garcia-Barceo
      1. The University Of Hong Kong, China
        1. Francesca Lantieri
        1. Universita Degli Studi Di Genova, Italy
          1. Gregor Burzynski
          1. University Of Groningen, Netherlands
            1. Salud Borrego
            1. Biomédica en Red de Enfermedades Raras, Spain
              1. Anna Pelet
              1. Universite Paris 5-Descartes, France
                1. Stacy Arnold
                1. Johns Hopkins University School Of Medicine, United States
                  1. Xiaoping Miao
                  1. The University Of Hong Kong, China
                    1. Paola Griseri
                    1. Istituto G. Gaslini, Italy
                      1. Alice S Brooks
                      1. Erasmus Mc, Rotterdam, Netherlands
                        1. Guillermo Antinolo
                        1. Biomédica en Red de Enfermedades Raras, Spain
                          1. Loïc De Pontual
                          1. Universite Paris 5-Descartes, France
                            1. Mathieu Clement-Ziza
                            1. Universite Paris 5-Descartes, France
                              1. Arnold Munnich
                              1. Universite Paris 5-Descartes, France
                                1. Carl Kashuk
                                1. Johns Hopkins University School Of Medicine, United States
                                  1. Kristen West
                                  1. Johns Hopkins University School Of Medicine, United States
                                    1. Kenneth Kak-Yuen Wong
                                    1. The University Of Hong Kong, China
                                      1. Stanislas Lyonnet
                                      1. Universite Paris 5-Descartes, France
                                        1. Aravinda Chakravarti
                                        1. Johns Hopkins University School Of Medicine, United States
                                          1. Paul Kwong-Hang Tam
                                          1. The University Of Hong Kong, China
                                            1. Isabella Ceccherini
                                            1. Istituto G. Gaslini, Italy
                                              1. Robert MW Hofstra
                                              1. University Of Groningen, Netherlands
                                                1. Raquel Fernandez
                                                1. Biomédica en Red de Enfermedades Raras, Spain

                                                  Abstract

                                                  Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5,000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-mendelian malformation with low, sex-dependant penetrance, variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and 5 loci have been found to be involved in HSCR development.

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